Simons Simplex Collection

SSC family participants

The Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI). The SSC achieved its primary goal to establish a permanent repository of genetic samples from 2,600 simplex families, each of which has one child affected with an autism spectrum disorder, and unaffected parents and siblings.

Each genetic sample has an associated collection of data that provides a precise characterization, or phenotype, of the individual. Rigorous phenotyping maximizes the value of the resource for a wide variety of future research projects on the causes and mechanisms of autism.

The SSC was operated by SFARI in collaboration with 12 university-affiliated research clinics. The clinics identified and assessed potential SSC participants, with guidance from the University of Michigan Autism and Communication Disorders Center, to ensure uniformity across clinics. Active enrollment of participants ended in 2011.

Previous pioneering efforts to collect genetic samples focused on families that include multiple individuals with autism, most notably the Autism Genetic Resource Exchange (AGRE), an ongoing effort to identify these so-called ‘multiplex’ families. The SSC differs from those efforts in its focus on simplex families, and in its clinic-based assessment and diagnosis.

A central database containing information from all study participants (with identifying information removed) is available to qualified researchers through SFARI Base.

Blood samples were processed into cell lines and DNA was extracted at RUCDR Infinite Biologics (formerly Rutgers University Cell and DNA Repository). Stored samples are available to approved researchers on a modest fee-for-use basis, through SFARI Base.

A subset of approximately 1,500 families who participated in the SSC are now enrolled in a registry at The Simons Simplex Community at the Interactive Autism Network ([email protected]). In 2015, SFARI recontacted all of the [email protected] families to request updated medical and educational outcomes information on all family members. Data from participants who contributed to this recontacting project (around 400 families) is currently being cleaned and will be released later this year. Qualified researchers may apply via SFARI Base for consideration to recontact this subset of families. The Recruitment Process Document provides answers to many frequently asked questions. For more information, please contact [email protected].